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Can anyone give me some information on Marfan syndrome? Basic questions?


I have a few questions about marfan syndrome:

1) who discovered marfan syndrome

2) when was marfan syndrome discovered

3) how was marfan syndorme discovered

4) what research are scientists today doing about marfan syndrome

Marfan syndrome is a genetic autosomal dominant disorder of the connective tissue characterized by unusually long limbs, great stature or long toes or fingers in proportion to height. The disease may also affect numerous other structures and organs 鈥?including the lungs, eyes, heart, blood vessels, dural sac surrounding the spinal cord, and hard palate. It is named after Antoine Marfan, the French pediatrician who first described it in 1896.

Marfan syndrome affects all races and both sexes equally,[1] as the mutation has no bias for gender or geographic location. Estimates indicate that approximately 60 000 (1 in 5000, or 0.02% of the population)[1] to 200 000[2] Americans have Marfan syndrome. Each parent with the condition has a 50% chance of passing it on to a child due to its autosomal dominant nature. Most individuals with Marfan syndrome have another affected family member, but approximately 15-30% of all cases are due to de novo genetic mutations[3] 鈥?such spontaneous mutations occur in about 1 in 20 000 births. Marfan syndrome is also an example of dominant negative mutation and haploinsufficiency[4][5]. It is associated with incomplete penetrance, therefore not all persons carrying the mutation develop the disease.

Torskie has the facts down pretty well. But if you are interested in it from a pesonal point of view, feel free to contact me. I am a 3rd generation Marfan and have apx 50 friends who also have Marfan's Syndrome.

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